mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes

BACKGROUND AND OBJECTIVES: Somatic and germline pathogenic variants in genes of the mammalian target of rapamycin (mTOR) signaling pathway are a common mechanism underlying a subset of focal malformations of cortical development (FMCDs) referred to as mTORopathies, which include focal cortical dyspl...

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Detalles Bibliográficos
Autores principales: Krochmalnek, Eric, Accogli, Andrea, St-Onge, Judith, Addour-Boudrahem, Nassima, Prakash, Gyan, Kim, Sung-Hoon, Brunette-Clement, Tristan, Alhajaj, Ghadd, Mougharbel, Lina, Bruneau, Elena, Myers, Kenneth A., Dubeau, Francois, Karamchandani, Jason, Farmer, Jean-Pierre, Atkinson, Jeffrey, Hall, Jeffrey, Chantal Poulin, Chantal, Rosenblatt, Bernard, Lafond-Lapalme, Joel, Weil, Alexander, Fallet-Bianco, Catherine, Albrecht, Steffen, Sonenberg, Nahum, Riviere, Jean-Baptiste, Dudley, Roy W., Srour, Myriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602370/
https://www.ncbi.nlm.nih.gov/pubmed/37900581
http://dx.doi.org/10.1212/NXG.0000000000200103

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